A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466206



Internal ID244051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119085985..119196844hg38UCSC Ensembl
chr4:120007140..120117999hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38110860
hg19110860
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954134
Samples
Known GenesMYOZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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